Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
Synonyms: Da Silva syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by psychomotor and growth delay severe intellectual disability microcephaly and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus seizures cardiac anomalies recurrent bronchopneumonia camptodactyly preauricular skin tag and dysmorphic facial features (such as broad forehead hypertelorism flat nasal bridge anteverted nostrils and prominent ears) among others.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome?
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COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
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National Organization for Disorders of the Corpus Callosum
The NODCC has become the leading organization for disorders of the corpus callosum seeking to raise the profile, understanding and acceptance of these disorders through education, networking, advocacy, and being a catalyst for research.
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